Skip Navigation
Menu
Letters |17 July 2018

Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts

Ashima Gulati, MD; Kyongtae T. Bae, MD, PhD, MBA; Stefan Somlo, MD; Terry Watnick, MD

Article, Author, and Disclosure Information
Author, Article, and Disclosure Information
This article was published at Annals.org on 27 March 2018.
  • Yale University School of Medicine, New Haven, Connecticut (A.G., S.S.)
    University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania (K.T.B.)
    University of Maryland School of Medicine, Baltimore, Maryland (T.W.)

    Acknowledgment: The authors thank the patients for their participation in the study.

    Financial Support: From the Yale Center for Mendelian Genomics (National Institutes of Health grant U54 HG006504). This work was supported by the American Society of Nephrology Ben J Lipps fellowship (2015 to 2017), the Polycystic Kidney Disease Foundation fellowship (2017 to 2019) (Dr. Gulati), and National Institutes of Health grants for the George M. O’Brien Kidney Center at Yale (P30 DK079310 and DK100592) (Dr. Somlo) and the Baltimore PKD Center (P30 DK090868 and DK095036) (Dr. Watnick).

    Disclosures: Disclosures can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=L17-0644.

×
FULL TEXT
Background: The most common clinical diagnosis in adults with bilateral renal cysts, hypertension, and chronic kidney disease is autosomal-dominant polycystic kidney disease (ADPKD), which is caused by a mutation in the gene that encodes polycystin-1 (PKD1) or polycystin-2 (PKD2) (1). Establishing this diagnosis may be difficult when the severity of renal disease or presentation of extrarenal disease varies, especially when there is no family history. Other conditions can present with bilateral renal cysts in adults, such as hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. This syndrome is caused by a mutation in...
FULL TEXT
PDF
Not Available
Citations
Citation

Gulati A, Bae KT, Somlo S, et al. Genomic Analysis to Avoid Misdiagnosis of Adults With Bilateral Renal Cysts. Ann Intern Med. [Epub ahead of print 27 March 2018]169:130–131. doi: 10.7326/L17-0644

Download citation file:

© 2019

×
Permissions

Published: Ann Intern Med. 2018;169(2):130-131.

DOI: 10.7326/L17-0644

Published at www.annals.org on 27 March 2018

©
2018 American College of Physicians
2 Citations

Related Articles
Recurrent Renal Cysts in a Transplanted Kidney
Annals of Internal Medicine; 169 (9): 657-658
Annals for Educators - 17 July 2018
Annals of Internal Medicine; 169 (2): ED2
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial
Annals of Internal Medicine; 167 (3): 159-169
Whole-Genome Sequencing in Primary Care
Annals of Internal Medicine; 167 (3): I-20
View MoreView Less

Related Topics
Nephrology

Nephrology.

PubMed Articles
Necrotizing myositis: highlighting the hidden depths - case series and review of the literature.
ANZ J Surg 2019.
The evolution of surgical treatment for gastrointestinal cancers.
Int J Clin Oncol 2019.
View More

Results provided by: PubMed

CONTINUE WITH LIMITED ACCESS
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×
acp link acp
silverchair link silverchair

Copyright © 2019 American College of Physicians. All Rights Reserved.

Print ISSN: 0003-4819 | Online ISSN: 1539-3704

Privacy Policy

|

Conditions of Use

This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy. | Accept
×

You need a subscription to this content to use this feature.

×
PDF Downloads Require Access to the Full Article.
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×
Access to this Free Content Requires Users to be Registered and Logged In. Please Choose One of the Following Options
Annals of Internal Medicine
To receive access to the full text of freely available articles, alerts, and more. You will be directed to acponline.org to complete your registration.
×